NM_001165963.4(SCN1A):c.5992G>A (p.Glu1998Lys) AND Early infantile epileptic encephalopathy with suppression bursts
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 22, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002922565.3
Allele description [Variation Report for NM_001165963.4(SCN1A):c.5992G>A (p.Glu1998Lys)]
NM_001165963.4(SCN1A):c.5992G>A (p.Glu1998Lys)
Condition(s)
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RecName: Full=C-type lectin domain family 6 member A; AltName: Full=C-type lecti...
RecName: Full=C-type lectin domain family 6 member A; AltName: Full=C-type lectin superfamily member 10; AltName: Full=Dendritic cell-associated C-type lectin 2; Short=DC-associated C-type lectin 2; Short=Dectin-2gi|59797926|sp|Q6EIG7.1|CLC6A_HUMANProtein
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Homo sapiens TTK protein kinase (TTK), transcript variant 2, mRNA
Homo sapiens TTK protein kinase (TTK), transcript variant 2, mRNAgi|1890341950|ref|NM_001166691.2|Nucleotide
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K-EST0169766 L8SCK0 Homo sapiens cDNA clone L8SCK0-15-B04 5', mRNA sequence
K-EST0169766 L8SCK0 Homo sapiens cDNA clone L8SCK0-15-B04 5', mRNA sequencegi|27947767|gnl|dbEST|16805953|gb|C 65.1|Nucleotide
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JGI_XZT66278.fwd NIH_XGC_tropTad5 Xenopus tropicalis cDNA clone IMAGE:7785348 5'...
JGI_XZT66278.fwd NIH_XGC_tropTad5 Xenopus tropicalis cDNA clone IMAGE:7785348 5', mRNA sequencegi|74304468|gnl|dbEST|31379994|gb|C 09.2|Nucleotide
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JGI_CAAO2740.rev NIH_XGC_tropTe5 Xenopus tropicalis cDNA clone CAAO2740 3', mRNA...
JGI_CAAO2740.rev NIH_XGC_tropTe5 Xenopus tropicalis cDNA clone CAAO2740 3', mRNA sequencegi|71935812|gnl|dbEST|30598363|gb|C 74.2|Nucleotide
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Last Updated: Sep 29, 2024